Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.Q274delFs
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C6

NM_000065.5:p.Q274delFs

Associated Papers

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.

Yildiz S et al.

Molecular Biology Reports, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

31440263 (PubMed )
Supplement: Table_1.DOCX

Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis.

Moya-Quiles MR et al.

Gene, 2013

Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.

Orren A et al.

Clinical and Experimental Immunology, 2012

Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.

Parham KL et al.

Molecular Immunology, 2007

Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.

Orren A et al.

Immunology, 1987

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."